February 26, 2016Scientific ReportsOpen Access

Mutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies

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Population

315 South African patients with arrhythmogenic right ventricular cardiomyopathy, dilated cardiomyopathy…

Design

Cross-sectional

Authors

MFMaryam FishUniversity of KwaZulu-Natal GSGasnat ShaboodienNamibia Institute of Pathology SKSarah KrausUniversity of Cape Town

Discussion

Member takes

Implication

PLN testing unlikely to be high-yield in South African cardiomyopathy; leaves open need for ancestry-specific gene discovery.

Structured PICO

Population

315 South African patients with arrhythmogenic right ventricular cardiomyopathy (n = 111), dilated cardiomyopathy (n = 95), hypertrophic cardiomyopathy (n = 40) and peripartum cardiomyopathy (n = 69)

Intervention

Screening for disease-causing phospholamban (PLN) mutations by high resolution melt analysis and DNA sequencing

Outcome

Prevalence of disease-causing PLN mutations

Phospholamban (PLN) mutations are a rare cause of cardiomyopathy in African patients, with a prevalence of 0.2%.

Cite This Study

Fish et al. (2016) studied this question.

synapsesocial.com/papers/6a72ef724aaee9d3921cf536 https://doi.org/10.1038/srep22235

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Mutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Mutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider